{"Name":"Sucrase-isomaltase deficiency","DiseaseID__c":"GARD:0006183","id":6183,"encodedName":"sucrase-isomaltase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Sucrase-isomaltase deficiency","Xref_IDs__c":"78373000; C128190; C1283620; C538139; DOID:0111633; MEDGEN:220924; MONDO:0009114; OMIM:222900; ORPHA:35122","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0009114","Disease_Description__c":"A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterized by malabsorption of sucrose and maltose.","GARD_Name__c":"Sucrase-isomaltase deficiency","GARD_Synonym__c":"congenital sucrase-isomaltase deficiency; congenital sucrase-isomaltose malabsorption; congenital sucrose intolerance; congenital sucrose isomaltose malabsorption; congenital sucrose malabsorption; congenital sucrose-isomaltase intolerance; csid; deficiency of isomaltase; deficiency of oligo-1,6-glucosidase; disaccharide intolerance; disaccharide intolerance i; genetic sucrase-isomaltose malabsorption; intestinal sucrase-a-dextrinase deficiency; si deficiency; sucrase-alpha-dextrinase deficiency; sucrose isomaltose enzyme deficiency","Curated_Disease_Description_Source__c":"MONDO:0009114","Curated_Disease_Description__c":"Congenital sucrase-isomaltase deficiency is a rare genetic disorder that affects an individual's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars.  Disaccharides are broken down into simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and maltose is broken down into two glucose molecules. People with congenital sucrase-isomaltase deficiency cannot break down the sugars sucrose and maltose, and other compounds made from these sugar molecules (carbohydrates). Congenital sucrase-isomaltase deficiency usually becomes apparent after an infant is weaned and starts to consume fruits, juices, grains, and other starchy food. After ingestion of sucrose or maltose, an affected individual will typically experience stomach cramps, bloating, excess gas production, and diarrhea. These digestive problems can lead to failure to gain weight and grow at the expected rate (failure to thrive) and malnutrition.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0009114","ORPHANET_ID__c":"ORPHA:35122","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia congénita de sacarasa-isomaltasa","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"deficiencia congénita de sacarasa-isomaltasa","Spanish_GARD_Synonym__c":"csid; intolerancia a los disacáridos; intolerancia congénita a la sacarosa","Category_Linearization__c":"ORPHA:97935","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Congenital sucrase-isomaltase deficiency is a rare genetic disorder that affects an individual's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars.  Disaccharides are broken down into simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and maltose is broken down into two glucose molecules. People with congenital sucrase-isomaltase deficiency cannot break down the sugars sucrose and maltose, and other compounds made from these sugar molecules (carbohydrates). Congenital sucrase-isomaltase deficiency usually becomes apparent after an infant is weaned and starts to consume fruits, juices, grains, and other starchy food. After ingestion of sucrose or maltose, an affected individual will typically experience stomach cramps, bloating, excess gas production, and diarrhea. These digestive problems can lead to failure to gain weight and grow at the expected rate (failure to thrive) and malnutrition.","Curated_Disease_Description_Source__c":"MONDO:0009114","GARD_Synonym__c":"congenital sucrase-isomaltase deficiency; congenital sucrase-isomaltose malabsorption; congenital sucrose intolerance; congenital sucrose isomaltose malabsorption; congenital sucrose malabsorption; congenital sucrose-isomaltase intolerance; csid; deficiency of isomaltase; deficiency of oligo-1,6-glucosidase; disaccharide intolerance; disaccharide intolerance i; genetic sucrase-isomaltose malabsorption; intestinal sucrase-a-dextrinase deficiency; si deficiency; sucrase-alpha-dextrinase deficiency; sucrose isomaltose enzyme deficiency","Name":"Sucrase-isomaltase deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"International Foundation for Functional Gastrointestinal Disorders","Website__c":"https://iffgd.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:35122"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:35122"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:35122"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:35122"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1283620","Source__c":"C1283620","Xref__c":"C1283620"},{"URL__c":"https://www.omim.org/entry/222900","Source__c":"C1283620; MONDO:0009114; ORPHA:35122","Xref__c":"OMIM:222900"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=220924","Source__c":"C1283620","Xref__c":"MEDGEN:220924"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C128190","Source__c":"C1283620; MONDO:0009114","Xref__c":"C128190"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=78373000","Source__c":"C1283620; MONDO:0009114","Xref__c":"78373000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538139","Source__c":"MONDO:0009114","Xref__c":"C538139"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111633","Source__c":"MONDO:0009114","Xref__c":"DOID:0111633"},{"URL__c":"https://www.orpha.net/en/disease/detail/35122","Source__c":"C1283620; MONDO:0009114; ORPHA:35122","Xref__c":"ORPHA:35122"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=360854006","Source__c":"C1283620","Xref__c":"360854006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009114","Source__c":"GARD:0006183","Xref__c":"MONDO:0009114"},{"URL__c":"https://medlineplus.gov/genetics/condition/congenital-sucrase-isomaltase-deficiency","Source__c":"GARD:0006183","Xref__c":"https://medlineplus.gov/genetics/condition/congenital-sucrase-isomaltase-deficiency"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SI","GHR_URL__c":"https://medlineplus.gov/genetics/gene/si","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:35122","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011848","HPO_Name__c":"Abdominal colic","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35122","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35122","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35122","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduced desire to eat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004396","HPO_Synonym__c":"Decreased appetite; Loss of appetite; Poor appetite","HPO_Name__c":"Poor appetite","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35122","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35122","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Involuntary fecal soiling in adults and children who have usually already been toilet trained.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002607","HPO_Synonym__c":"Anal incontinence; Fecal incontinence; Loss of bowel control","HPO_Name__c":"Bowel incontinence","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35122","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Infrequent or difficult evacuation of feces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002019","HPO_Synonym__c":"Constipation; Costiveness; Dyschezia","HPO_Name__c":"Constipation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35122","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A sensation of unease in the stomach together with an urge to vomit.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002018","HPO_Synonym__c":"Nausea","HPO_Name__c":"Nausea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35122","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002020","HPO_Synonym__c":"Acid reflux; Acid reflux disease; Gastro-esophageal reflux; Gastroesophageal reflux disease; GERD; GORD; Heartburn","HPO_Name__c":"Gastroesophageal reflux","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35122","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35122","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35122","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Distention of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003270","HPO_Synonym__c":"Abdominal bloating; Abdominal distension; Abdominal swelling; Belly bloating; Bloating; Distended abdomen","HPO_Name__c":"Abdominal distention","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35122","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Passage of many stools containing blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025085","HPO_Synonym__c":"Bloody bowel movement; Bloody diarrhea","HPO_Name__c":"Bloody diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35122","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Passage of excessive amounts of gas and the feeling of abdominal fullness and bloating.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033589","HPO_Name__c":"Flatulence","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Gastroenterology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["congenital sucrase-isomaltase deficiency"," congenital sucrase-isomaltose malabsorption"," congenital sucrose intolerance"," congenital sucrose isomaltose malabsorption"," congenital sucrose malabsorption"," congenital sucrose-isomaltase intolerance"," csid"," deficiency of isomaltase"," deficiency of oligo-1,6-glucosidase"," disaccharide intolerance"," disaccharide intolerance i"," genetic sucrase-isomaltose malabsorption"," intestinal sucrase-a-dextrinase deficiency"," si deficiency"," sucrase-alpha-dextrinase deficiency"," sucrose isomaltose enzyme deficiency"]}